Blomqvist, M. E., McCarthy, S. E., Blennow, K., Andersson, B., Prince, J. A. (2010) Evaluation of neprilysin sequence variation in relation to CSF beta-Amyloid levels and Alzheimer disease risk. International Journal of Molecular Epidemiology and Genetics, 1 (1). pp. 47-52.
Abstract
Neprilysin (NEP) is a principal peptidase involved in the degradation of β-amyloid (Aβ), and as such its encoding gene (MME) has been the target of numerous genetic association studies on Alzheimer disease. Here, in order to attempt replication of previous findings we have investigated several single nucleotide polymorphisms (SNPs) that have been claimed to be associated with AD. A key feature of the present study is the complementary investigation of both AD risk and quantitative measures of AD severity, including cerebrospinal (CSF) fluid levels of Aβ1-42. In contrast to the effects of APOE, none of these measures are detectably influenced by genetic polymorphism in the MME region. We thus, fail to find support for previous results suggesting that MME impacts AD.
| Item Type: | Paper |
|---|---|
| Uncontrolled Keywords: | beta-amyloid Alzheimer disease Metalloendopeptidase MME Neprilysin Polymorphism |
| Subjects: | diseases & disorders > mental disorders > delirium dementia cognitive disorders > Alzheimer's disease |
| CSHL Authors: | |
| Communities: | CSHL labs > McCombie lab |
| Depositing User: | CSHL Librarian |
| Date: | 2010 |
| Date Deposited: | 27 Sep 2011 15:40 |
| Last Modified: | 28 Feb 2018 20:49 |
| PMCID: | PMC3076750 |
| URI: | https://repository.cshl.edu/id/eprint/15358 |
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